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Quoted phrase not found in phrase index: "Retinitis pigmentosa 84"
Page 1
Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa.
Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M. Liew G, et al. Br J Ophthalmol. 2019 Aug;103(8):1163-1166. doi: 10.1136/bjophthalmol-2018-311964. Epub 2018 Oct 5. Br J Ophthalmol. 2019. PMID: 30291136
BACKGROUND/AIMS: To report the prevalence of treatable complications (cystoid macular oedema, CME; epiretinal membrane, ERM and cataract) in patients with retinitis pigmentosa (RP). METHODS: Consecutive patients with RP attending a tertiary eye clinic in 2012. ...
BACKGROUND/AIMS: To report the prevalence of treatable complications (cystoid macular oedema, CME; epiretinal membrane, ERM and cataract) in …
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE. Cehajic-Kapetanovic J, et al. JAMA Ophthalmol. 2020 Nov 1;138(11):1151-1158. doi: 10.1001/jamaophthalmol.2020.3634. JAMA Ophthalmol. 2020. PMID: 32970112 Free PMC article.
IMPORTANCE: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. ...MAIN OUTCOMES AND MEASURES: Data were collected …
IMPORTANCE: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-link …
Renal features of Bardet Biedl syndrome: A single center experience.
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A. Atmış B, et al. Turk J Pediatr. 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. Turk J Pediatr. 2019. PMID: 31951329 Free article.
BBS is a rare autosomal recessive disorder and 21 different BBS genes have been defined to date. BBS is characterized with dysmorphic extremities, retinitis pigmentosa, obesity, hypogenitalism, intellectual disabilility and renal structural abnormalities. ...Five of …
BBS is a rare autosomal recessive disorder and 21 different BBS genes have been defined to date. BBS is characterized with dysmorphic extrem …
Developments in molecular genetics and electrophysiology in inherited retinal disorders.
Andréasson S. Andréasson S. Acta Ophthalmol Scand. 2006 Apr;84(2):161-8. doi: 10.1111/j.1600-0420.2006.00657.x. Acta Ophthalmol Scand. 2006. PMID: 16637830 Free article. Review.
Retinitis pigmentosa is said to be the most frequent reason for severe visual handicap among young people in Scandinavia today. Developments in the fields of electrophysiology and molecular genetics have increased our understanding of the pathophysiology of these di …
Retinitis pigmentosa is said to be the most frequent reason for severe visual handicap among young people in Scandinavia today …
Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years.
Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG. Cideciyan AV, et al. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4558-4566. doi: 10.1167/iovs.18-24931. Invest Ophthalmol Vis Sci. 2018. PMID: 30208424
PURPOSE: To determine the progression rate and the variability of rod and cone sensitivities in patients with X-linked retinitis pigmentosa (XLRP) caused by mutations in ORF15-RPGR. METHODS: ORF15-RPGR-XLRP patients (n = 15) were studied prospectively over 2 years w …
PURPOSE: To determine the progression rate and the variability of rod and cone sensitivities in patients with X-linked retinitis p …
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. Georgiou M, et al. Am J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec 11. Am J Ophthalmol. 2021. PMID: 33309813 Free PMC article.
PURPOSE: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. ...
PURPOSE: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and …
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T. Zahid S, et al. JAMA Ophthalmol. 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120. JAMA Ophthalmol. 2013. PMID: 23681342 Free PMC article.
IMPORTANCE: For patients with X-linked retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging because it complicates counseling regarding patients' likely visual prognosis. OBJECTIVE: To evaluate the clinical findings from patien …
IMPORTANCE: For patients with X-linked retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging be …
Accuracy of automated machine learning in classifying retinal pathologies from ultra-widefield pseudocolour fundus images.
Antaki F, Coussa RG, Kahwati G, Hammamji K, Sebag M, Duval R. Antaki F, et al. Br J Ophthalmol. 2023 Jan;107(1):90-95. doi: 10.1136/bjophthalmol-2021-319030. Epub 2021 Aug 3. Br J Ophthalmol. 2023. PMID: 34344669
This study assessed the discriminative performance of AutoML in differentiating retinal vein occlusion (RVO), retinitis pigmentosa (RP) and retinal detachment (RD) from normal fundi using ultra-widefield (UWF) pseudocolour fundus images. ...The multiclass AutoML mod …
This study assessed the discriminative performance of AutoML in differentiating retinal vein occlusion (RVO), retinitis pigmentosa …
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI. Pierrache LHM, et al. Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531. Invest Ophthalmol Vis Sci. 2019. PMID: 31074760
PURPOSE: To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS: Multiethnic cohort study (N = 30) with biallelic EYS variants from a clinical IRD database (retinitis pigmentosa [RP], N = …
PURPOSE: To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHOD …
Pattern reversal visual evoked potentials in retinitis pigmentosa.
Papathanasopoulos PG, Papakostopoulos D. Papathanasopoulos PG, et al. Int J Psychophysiol. 1994 May;16(2-3):245-50. doi: 10.1016/0167-8760(89)90051-2. Int J Psychophysiol. 1994. PMID: 8089043
Pattern reversal visual evoked potentials (PR-VEPs) of 31 patients with retinitis pigmentosa (RP) and 20 normal control subjects were recorded and compared. ...It seems that RP can introduce significant increase in the PR-VEP latency associated with decreased VA. Th …
Pattern reversal visual evoked potentials (PR-VEPs) of 31 patients with retinitis pigmentosa (RP) and 20 normal control subjec …
29 results